Stanford Center for Inherited Cardiovascular Disease

Genetic Counseling In Depth

Genetic counseling is a key part of your care at the Stanford Center for Inherited Cardiovascular Disease.  The goal of genetic counseling is to help you learn more about how the inherited cardiovascular condition in your family affects you and your family.  The genetic counselor will guide you through decision-making about genetic testing, family planning, and medical management.  The genetic counselor can also help you deal with emotions associated with having an inherited condition or being at risk for an inherited condition.  Our team can also connect with you additional support resources for families dealing with inherited cardiovascular conditions, such as support and advocacy groups and psychologists specialized in helping people deal with health challenges. 

A genetic counseling appointment usually takes about one hour.  Many of the topics that can be addressed in genetic counseling are reviewed below.  It can be helpful to prepare a list of questions that you and your family members have about the hereditary nature of the condition that’s running in your family. 

Detailed report:  You and your doctor will received a detailed report summarizing your genetics evaluation.  This report includes information about your condition, how it runs in the family, the chances for other family members to develop the same condition, recommendations for how family members should be evaluated, and the results of any genetic testing you have had.  We provide this report to help you remember the things discussed in your genetic counseling session and to help you share the information with your family, since much of the information discussed applies not just to you, but to your family members as well.

Review and assessment of your family history:  The genetic counselor will review your family health history in detail and this information will be used to create a family tree (pedigree). It is helpful to speak to your relatives prior to this visit to obtain as much information about your family history as possible.  This will help you and your family obtain the most out of the visit to our center.

Important things to look for you in your family history include:

Reviewing your family history helps our team determine which side of the family the inherited heart condition came from.  The genetic counselor will also tell you what the chances are for other family members, such as your children, to develop the same condition.  In some cases, the family history is important in helping the team make the right diagnosis for you and your family.  It may be helpful for the team to review family members’ medical records.

Screening & prevention recommendations for your family:  When one person in the family gets diagnosed with an inherited heart condition it’s important that other family members get checked to see if they have the same condition. Many inherited cardiovascular conditions are difficult to diagnosis or develop with age, making it important that family members get evaluated again, even if their initial evaluation is normal. We will provide specific recommendations for which family members need to evaluated, what tests they should have, and how often they should have them.  In some cases avoidance of certain medications or activities can help keep family members’ hearts healthy and reduce the chances of cardiac arrest or sudden death. 

Genetic testing:  Genetic testing is available for many inherited cardiovascular conditions.  As part of your genetics evaluation, the genetic counselor will discuss what tests are available for the condition that is running in your family and how such tests can help you and your family.  The genetic counselor will also help you understand the limitations of genetic tests and what the results of genetic testing will mean for you and your family.  If you decide to have genetic testing, the genetic counselor will help arrange the test.  She will also discuss the results with you once they are available.

For individuals with healthy hearts and a family history of an inherited heart condition, genetic testing can sometimes help predict whether they will develop that heart condition in the future. Through your discussions with the genetic counselor you’ll explore the implications of learning this predictive information about your health. 

Many families have concerns regarding the risk of insurance discrimination based on a positive genetic test result.  The genetic counselor help you learn about current legal protections against genetic discrimination and how they apply to your case.

Family planning: Often families with an inherited cardiovascular condition want to learn more about their options for family planning.  The genetic counselor can help you explore the range of options that are available and guide you through deciding which option is right for you. 

Many couples choose to conceive naturally and then test the baby after it’s born.  Others opt for conceiving naturally and using genetic testing during pregnancy (if the mutation causing the condition is known).  Couples who prefer to avoid passing on the hereditary heart condition that is running in the family may choose to adopt or use donor eggs or sperm. 

One option that reduces the chances of passing on the hereditary heart condition is called preimplantation genetic diagnosis (PGD). Embryos are created through in vitro fertilization (IVF) prior to pregnancy and genetic testing is used to select embryos that do not have the predisposition to heart problems.  PGD is only an option if the genetic mutation causing the heart condition in your family has been found through genetic testing.  If you are interested in PGD our genetic counselor will work with you to find an IVF program that you are comfortable with and will help to coordinate the process.  We collaborate with IVF and PGD clinics nationwide. 
Deciding which family planning option to pursue is a very personal choice that a couple makes based on a variety of factors.  Different couples choose different routes. The genetic counselor will assist you in making these decisions, based on your perceptions of the risks and benefits, your family goals, and your personal and religious beliefs. 

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